David L. Rousso, Ph.D, Aditya Saxena, Ph.D  – Spark Therapeutics, Inc.

RPE65 Update:
-Safety and Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 8 and 9 Years
-Genetic epidemiology of RPE65-mediated inherited retinal disease in the United States

Janice Lasky Zeid, M.D. – Ann & Robert H. Lurie Children’s Hospital of Chicago/Northwestern University

The Long and Short of it: Expanding the Phenotype and Ocular Manifestations of Neurofibromatosis 1 Microdeletion Syndrome

Nieraj Jain, M.D. – Department of Ophthalmology, Emory University School of Medicine

Pars Plana Vitrectomy in Congenital X-Linked Retinoschisis

Kimerly Stepien, MD – University of WI- Madision Department of Ophthalmology and Visual Sciences

Could Estrogen reduce the Split?

Andy Drackley, MS, CGC – Lurie Children’s Hospital of Chicago 

Ophthalmological Manifestations in a Pediatric Population with Stickler Syndrome Types I and II

Fyqah Almahmoudi, MD – King Fahd Armed Forces Hospital, Saudi Arabia

Macular dystrophy, what is the missing puzzle piece?

Jennifer Rossen, MD – Lurie Children’s Hospital of Chicago

Phenotypic variability of MAF-Associated Congenital Cataracts: Isolated or Syndromic?

Megan Soucy, MS, CGC – Columbia University – Department of Ophthalmology

Compound Heterozygous Nonsense and Frameshift Mutations in Exon 43 of EYS Causing Reduced Penetrance

Ari August, MD – Wills Eye Hospital

Genotypic and Phenotypic Expansion of ADAMTS18-Related Ocular Pathology

Savleen Kaur, MD, DNB, FICO, FAICO – Post Graduate Institute of Medical Education and Research, India

Genetic variants in patients with bilateral congenital cataracts in a large cohort from North India

Lev Prasov, MD, PhD – University of Michigan

Lessons learned from the ClinGen Gene and Variant Curation Expert Panels

Arif Khan, MD – Cleveland Clinic Abu Dhabi

Macular scars from prior ocular toxoplasmosis infection?

Brenda L. Bohnsack, MD, PhD – Ann & Robert H. Lurie Children’s Hospital of Chicago

Compound heterozygous CYP1B1 variants in juvenile open angle glaucoma (JOAG)

Monique Leys, MD – WVU Eye Institute

INTS11 neurodevelopmental disorder with electronegative ERG

Distinguished Special Lecture

Johane Robitaille, MD

“Saturday Night FEVR and Three Decades of Research in Maritime Canada”

Irene H Maumenee, MD – CUIMC/Edward S. Harkness Eye Institute

Thirty-year follow-up of surgical repair of congenital ectopia lentis including DNA analysis

Ian MacDonald, MSc, MD, CM – University of Montreal 

Homozygous deletion in P-CARE results in a maculopathy and cone-rod dystrophy

Scott Brodie, MD, PhD – Columbia University Vagelos College of Physicians and Surgeons

Pigmentary retinopathy and optic disc swelling in siblings with ABCA4 mutations

Diana Brightman, PhD, MS – Cincinnati Children’s Hospital Medical Center 

Association of colobomas with variants in the Rho family of small GTPases and effector genes

Alina Dumitrescu, MD – University of Iowa 

Amblyopia Not Responding to Treatment

Emily Levine, MD – Dartmouth Hitchcock Medical Center

Microcephaly and chorioretinopathy in a child born to an Ophthalmology resident: perspectives as a doctor and mother in training

Matt Benson, MD – University of Alberta

A case of fish-eye disease caused by novel variants in LCAT

Kati Veres, MD – National Eye Institute/NIH

Deep phenotyping reveals novel ophthalmic findings in Smith-Lemli-Optiz Syndrome

Noor Ghali, M.S. – Case Western Reserve University SOM 

Case Presentation

Kirill Zaslavsky – Massachusetts Eye and Ear Infirmary

Ellipsoid zone optical gap and cone-rod dystrophy secondary to ABCA4 p.Pro143Leu variant

Ramiro Maldonado, MD – Duke Eye Center

Ultracompact hand-held swept source optical coherence tomography (SS-HH-OCT) as a novel diagnostic modality for early-onset retinal dystrophies (EORDS)

Dan Chung, DO – SparingVision

Presentation